辽宁汉族人群HLA-DRB1基因多态性分布

目的调查HLA-DRB1基因位点遗传多态性在辽宁汉族人群中的分布。方法应用聚合酶链反应．序列特异性引物方法和反向聚合酶链反应．序列特异性寡核苷酸探针杂交的方法对13265名辽宁汉族人进行中低分辨率HLA-DRB1基因分型。结果共检出HLA-DRB1位点的13种等位基因，其中以HLA-DRB1＊15频率最高（17．49％），其次为HLA-DRB1＊09、＊12和HLA-DRB1＊07，基因频率分别为13．40％、11．87％和11．8l％。HLA-DRB1＊03（18）和HLA-DRB1＊14（8）等位基因未检出。对观察值和期望值进行X^2检验，符合Hardy-Weinberg平衡（X^2=73．34，af=78，P〉0．5）。该人群与南北方汉族人群、日本人、白人和黑人分别进行X^2值检验差异有统计学意义，X^2值分别为112．053、8．514、692．141、70．558和121．755。结论辽宁汉族人群HLA-DRB1基因分布有自身特点。

Polymorphism distribution of HLA-DRB1 gene locus in Han race population in Liaoning of China

OBJECTIVE: To elucidate the genotype distribution of HLA-DRB1 polymorphisms in the Han race population in Liaoning of China and to evaluate its value on forensic medicine. METHODS: The blood DNA samples from 13265 unrelated Chinese individuals of Han race population in Liaoning province were investigated and HLA-DRB1 alleles were genotyped with PCR-SSP and PCR-SSOP in low resolution level. RESULTS: Thirteen HLA-A alleles were found, in which HLA-DRB1*15, 09, 12, 07 were the commonest but HLA-DRB1*03(18), HLA-DRB1*14(8) were absent. The population data conformed to the Hardy-Weinberg equilibrium(chi-square was 73.34, df was 78, P> 0.5). The exclusion probability of paternity was 64.7%, the power of discrimination was 97.9% and the heterozygosity was 89.4%. CONCLUSION: The HLA-DRB1 polymorphism of Liaoning Han populations show the special characters and HLA-DRB1 genotyping is useful genetic marker to paternity testing and personal identification.